Epicanthus, and Broad nasal tip

Diseases related with Epicanthus and Broad nasal tip

In the following list you will find some of the most common rare diseases related to Epicanthus and Broad nasal tip that can help you solving undiagnosed cases.


Top matches:

High match SIX2-RELATED FRONTONASAL DYSPLASIA


SIX2-RELATED FRONTONASAL DYSPLASIA Is also known as six2-related fnd

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Ptosis
  • Depressed nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about SIX2-RELATED FRONTONASAL DYSPLASIA

High match NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL


NEDDFL is a neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability, poor growth with small head size, dysmorphic facial features, and mild abnormalities of the hands and feet (summary by Stankiewicz et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL

High match FOCAL FACIAL DERMAL DYSPLASIA TYPE III


Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD; see this term), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis.

FOCAL FACIAL DERMAL DYSPLASIA TYPE III Is also known as focal facial dermal dysplasia 3, setleis type|setleis syndrome|ffdd type iii|ffdd3|brauer-setleis syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Micrognathia
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about FOCAL FACIAL DERMAL DYSPLASIA TYPE III

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Other less relevant matches:

High match SHASHI-PENA SYNDROME; SHAPNS


Shashi-Pena syndrome is a neurodevelopmental syndrome characterized by delayed psychomotor development, variable intellectual disability, hypotonia, facial dysmorphism, and some unusual features, including enlarged head circumference, glabellar nevus flammeus, and deep palmar creases. Some patients may also have atrial septal defect, episodic hypoglycemia, changes in bone mineral density, and/or seizures (summary by Shashi et al., 2016).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about SHASHI-PENA SYNDROME; SHAPNS

High match AL KAISSI SYNDROME; ALKAS


Al Kaissi syndrome is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by Windpassinger et al., 2017).

AL KAISSI SYNDROME; ALKAS Is also known as growth retardation, spine malformation, dysmorphic facies, and developmental delay

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about AL KAISSI SYNDROME; ALKAS

High match HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME; HLTRS


Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome is an autosomal dominant disorder characterized by these 4 features, which begin in early childhood and are progressive (summary by Moalem et al., 2015).

HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME; HLTRS Is also known as glomerulonephritis with sparse hair and telangiectases|telangiectatic membranoproliferative glomerulonephritis

Related symptoms:

  • Global developmental delay
  • Abnormal facial shape
  • Hypertension
  • Epicanthus
  • Wide nasal bridge


SOURCES: MESH OMIM MENDELIAN

More info about HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME; HLTRS

High match SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME


SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME Is also known as sbidds

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 57; MRD57


MRD57 is an autosomal dominant neurodevelopmental disorder with a highly variable phenotype. Most affected individuals have delayed psychomotor development apparent in infancy or early childhood, language delay, and behavioral abnormalities. Additional features may include hypotonia, feeding problems, gastrointestinal issues, and dysmorphic facial features (summary by Reijnders et al., 2018).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 57; MRD57

High match MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH


Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) is an X-linked disorder affecting females and characterized by severe intellectual disability, microcephaly, and variable degrees of pontocerebellar hypoplasia. Affected individuals have very poor psychomotor development, often without independent ambulation or speech, and axial hypotonia with or without hypertonia. Some may have sensorineural hearing loss or eye anomalies. Dysmorphic features include overall poor growth, severe microcephaly (-3.5 to -10 SD), broad nasal bridge and tip, large ears, long philtrum, micrognathia, and hypertelorism (summary by Moog et al., 2011).

MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH Is also known as micpch syndrome|mrxsna|mental retardation, x-linked, syndromic, najm type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH

High match HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS


Hypotonia, ataxia, and delayed development syndrome (HADDS) is a neurodevelopmental syndrome characterized by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia. Some patients may have urogenital abnormalities (summary by Sleven et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS

Top 5 symptoms//phenotypes associated to Epicanthus and Broad nasal tip

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Hypertelorism Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Epicanthus and Broad nasal tip. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape

Common Symptoms - More than 50% cases


Strabismus

Uncommon Symptoms - Between 30% and 50% cases


Delayed speech and language development Ptosis Wide nasal bridge Posteriorly rotated ears Microcephaly Growth delay Abnormality of the skeletal system Low-set ears Prominent nasal bridge High palate Thin upper lip vermilion Depressed nasal bridge Upslanted palpebral fissure Pes planus Long face Scoliosis Micrognathia Downslanted palpebral fissures Frontal bossing Oval face Intrauterine growth retardation Long philtrum

Rare Symptoms - Less than 30% cases


Feeding difficulties Cerebellar hypoplasia Kyphosis Muscular hypotonia of the trunk Retrognathia Absent eyelashes Pain Highly arched eyebrow Autistic behavior Decreased body weight Deep palmar crease Delayed myelination Cryptorchidism Brachydactyly Anteverted nares Short neck Deeply set eye Astigmatism Delayed ability to walk Telecanthus Short chin Pointed chin Thick vermilion border Triangular face Synophrys Postnatal growth retardation Downturned corners of mouth Micropenis Short palpebral fissure Hypertension Nystagmus Sparse hair Myopia Postnatal microcephaly High forehead Clinodactyly Narrow mouth Small hand Macrocephaly Flexion contracture Frontal hirsutism Diarrhea Midface retrusion Stereotypy Dilated fourth ventricle Hyperactivity Constipation Apraxia Decreased fetal movement Infra-orbital crease Autism Anxiety Craniosynostosis Blepharophimosis Attention deficit hyperactivity disorder Abnormality of the genitourinary system Short metatarsal Pseudohypoparathyroidism Obesity Pulmonary lymphangiectasia Choroid plexus calcification Epidermal hyperkeratosis Facial telangiectasia in butterfly midface distribution Telangiectasia of extensor surfaces Overfolding of the superior helices Horizontal eyebrow Pain insensitivity Malar flattening Inverted nipples Underdeveloped supraorbital ridges Severe global developmental delay Myopathic facies Thin vermilion border Short foot Overfolded helix Deep philtrum Short metacarpal Laryngomalacia Microtia Poor head control Vesicoureteral reflux Neurological speech impairment Dysmetria Epileptic encephalopathy Dysphagia Absent speech Encephalopathy Arteriosclerosis Macrotia Intellectual disability, moderate Pallor Coloboma Generalized tonic-clonic seizures Optic disc pallor Short nose Hypsarrhythmia Hypohidrosis Progressive microcephaly Plagiocephaly Optic nerve hypoplasia Abnormally large globe Overlapping fingers Dysarthria Ataxia Cerebellar atrophy Hypertonia Joint hypermobility Tall chin Macrogyria Otitis media Hypertrichosis Recurrent otitis media Hoarse voice Obsessive-compulsive behavior Toe walking Hyperventilation Microtia, first degree Neonatal hypotonia Intellectual disability, severe Hearing impairment Sensorineural hearing impairment Muscle weakness Cleft palate Gastroesophageal reflux Spasticity Motor delay Hyperreflexia Prominent forehead Membranoproliferative glomerulonephritis Nevus flammeus of the forehead Nonimmune hydrops fetalis Lacrimation abnormality Hypopigmented skin patches Redundant skin Aplasia/Hypoplasia of the skin Multiple cafe-au-lait spots Prematurely aged appearance Aplasia cutis congenita Abnormal eyelash morphology Sparse lateral eyebrow Abnormal hair pattern Periorbital fullness Abnormality of the upper urinary tract Depressed nasal ridge Dimple chin Distichiasis Abnormality of the sacroiliac joint Sparse lower eyelashes Congenital horizontal nystagmus Ventriculomegaly Atrial septal defect Behavioral abnormality Cerebral atrophy Osteoporosis Horizontal nystagmus Bulbous nose Hypoglycemia Aplasia/Hypoplasia of the frontal sinuses Abnormality of the kidney Small for gestational age Wide anterior fontanel Abnormality of the thyroid gland Epicanthus inversus Metopic synostosis Abnormality of the skull base Absent/hypoplastic paranasal sinuses Premature posterior fontanelle closure Prominent palatine ridges Cataract Anal atresia Abnormality of the cerebral white matter Hypermetropia Prominent nose Underdeveloped nasal alae Sandal gap Overlapping toe Broad hallux Slender finger Scarring Short philtrum Proptosis Elevated hepatic transaminase Hydrocele testis Hydrops fetalis Dilatation Alopecia Hyperkeratosis Mandibular prognathia Proteinuria Hypotrichosis Stage 5 chronic kidney disease Eczema Telangiectasia Lymphedema Sparse and thin eyebrow Edema Sparse eyelashes Chronic kidney disease Pyloric stenosis Glomerulonephritis Absent eyebrow Reduced subcutaneous adipose tissue Long nose Freckling Palpebral edema Narrow nose Renal insufficiency Decreased head circumference Low-set, posteriorly rotated ears Nevus flammeus Feeding difficulties in infancy Poor speech Recurrent fractures Nevus Febrile seizures Cafe-au-lait spot Accelerated skeletal maturation Hyperlipidemia Reduced bone mineral density Hyperinsulinemia Hypoplasia of the corpus callosum Malar rash Brachycephaly Abnormality of the pinna Abnormal cardiac septum morphology Smooth philtrum High, narrow palate Narrow forehead Broad-based gait Hemivertebrae Sacral dimple Severe intrauterine growth retardation Macrodontia Broad chin



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